The purpose of this handbook is to provide a practical collection of reference data on a variety of physical measurements for use in the evaluation of children and adults with dysmorphic features and/or structural anomalies. It has been prepared as a small pocket book so that it can easily be carried by the physician to the ward or "the field." This book is intended for use by those health professionals evaluating individuals with unusual physical features. It is an attempt to provide standards both for comparison and for improved definition of normal patterns of human development and growth.
There is a need for a standardized approach to physical measurement in patients with congential anomalies and syndromes. Until recently the study of children with dysmorphic features has primarily involved qualitative descriptions. This descriptive phase has brought us to a new stage where accuracy and quantitation have become desirable. The definition and delineation of new clinical entities require precise and reproduceable methods. Careful documentation by measurement, in well-known conditions, will allow one to distinguish heterogeneity, learn more about natural history, and provide a basis for the future application of techniques and concepts from developmental biology and molecular genetics.
The real value of a single measurement lies in comparison with a standard. The standard can be an age-related norm, or it can be the individual patient at another point in time. Comparison can also be made of growth of different parts of the body; for example, to see whether head circumference, height, and weight are at the same percentile or at different percentiles. While graphs or tables of standard growth parameters— length, weight, and head circumference—are easy to find, it is often difficult to obtain comparable standards for other body structures. For this reason, we have compiled a comprehensive set of normal curves. For the measurement graphs we have chosen to illustrate percentiles, if available, rather than standard deviations in order to be consistent. Standard deviations do allow comparison of the individual patient to an age-related normal population, but percentiles have the additional advantage of allowing serial growth measurements in the same person and comparison of the growth of different body parts in one individual in a more easily interpretable form (unless of course, the measurements are way below the 3rd or way above the 97th percentile).
We recognize that obtaining precise physical measurement is, in fact, a complex and specialized field in itself. However for routine clinical use, the method must be simple enough to "get the job done." Therefore, we have outlined and illustrated practical and simple methods and have chosen those graphs and tables which, in our experience as practicing clinical geneticists, are the most useful.
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